Characterization of a Small Supernumerary Marker Chromosome in a Healthy Man
Author Information
Author(s): Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres, María Luisa Martínez-Frías
Primary Institution: Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
Hypothesis
Can a small supernumerary marker chromosome (sSMC) be present in a healthy individual without clinical repercussions?
Conclusion
The study found that a healthy man carried a small supernumerary marker chromosome derived from chromosome 16, which did not result in any clinical manifestations.
Supporting Evidence
- The sSMC was characterized as being derived from chromosome 16.
- The presence of euchromatin material from the long arm of chromosome 16 was demonstrated.
- The karyotype of the individual was found to be mosaic with two different cellular lines.
Takeaway
This study shows that some people can have extra pieces of chromosomes and still be healthy, like having an extra toy but not needing it to play.
Methodology
Molecular techniques including fluorescence in situ hybridization (FISH), microdissection, and reverse painting were used to characterize the sSMC.
Limitations
The study did not analyze other tissues, which may have different degrees of mosaicism.
Participant Demographics
A 30-year-old healthy and fertile man.
Digital Object Identifier (DOI)
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